Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Yau WY et al.
Brain Communications, 2025
40488180 (PubMed )
Supplement: fcaf188_supplementary_data.pdf
Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.
Zhu CH et al.
Cerebellum (london, England), 2024
A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.
Schaare D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF et al.
International Journal of Molecular Sciences, 2021
Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.
Duque KR et al.
Cerebellum (london, England), 2021
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Zhang L et al.
Frontiers in Pediatrics, 2020
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Tantsis EM et al.
Developmental Medicine and Child Neurology, 2016
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